Pesquisa sobre: MFN=57103 
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Descritor Inglês:   Dysbindin 
Descritor Espanhol:   Disbindina 
Descritor Português:   Disbindina 
Sinônimos Inglês:   DTNBP1 Protein
Dysbindin-1
Dystrobrevin Binding Protein 1
Hermansky-Pudlak Syndrome 7 Protein
Dysbindin 1
Hermansky Pudlak Syndrome 7 Protein  
Categoria:   D12.776.210.500.410.250
D12.776.220.362.125
D12.776.543.268.250
D12.776.543.990.447
D12.776.631.262
Definição Inglês:   A dystrophin-associated protein and component of the Biogenesis of Lysosomal Organelles Complex-1 (BLOC-1 complex) which is essential for the formation of LYSOSOME - derived organelles such as platelet dense granules and MELANOSOMES. DTNBP1 is expressed primarily in the brain and neurons, where it functions with ADAPTOR PROTEIN COMPLEX 3 to transport membrane proteins to NEURITES and nerve terminals. It also regulates the release of neurotransmitters, transport of synaptic vesicles, and localization of DOPAMINE D2 RECEPTORS. Mutations in the DTNBP1 gene are associated with Type 7 HERMANSKY-PUDLAK SYNDROME and SCHIZOPHRENIA. 
Nota Histórica Inglês:   2018 
Qualificadores Permitidos Inglês:  
AD administration & dosage AE adverse effects
AG agonists AN analysis
AI antagonists & inhibitors BI biosynthesis
BL blood CF cerebrospinal fluid
CS chemical synthesis CH chemistry
CL classification DF deficiency
DE drug effects EC economics
GE genetics HI history
IM immunology IP isolation & purification
ME metabolism PK pharmacokinetics
PD pharmacology PH physiology
PO poisoning RE radiation effects
SE secretion ST standards
SD supply & distribution TU therapeutic use
TO toxicity UL ultrastructure
UR urine  
Número do Registro:   57103 
Identificador Único:   D000074765 

Ocorrência na BVS:
 
MEDLINE    

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